ALS mutation database

Table of contents

• Detail information
• Sequence information
• Mutation Search
• Mutation & Clinical information
• Multiple alignments
• 3D structure
• Structure information
• Overview of mutations
• Reference information

Causative genes

• DCTN1
• TARDBP
• FUS
• ALS2
• SOD1
• VAPB

Related genes

• ADARB1
• CNTF
• DPP6
• SETX
• RNF19A
• CHMP2B
• ANG
• GRIA2
• HFE
• APEX1
• APOE
• ITPR2
• KDR
• LIF
• MAOB
• NEFH
• OGG1
• PON1
• PON2
• PON3
• FGGY
• PRPH
• SLC1A2
• SMN1
• SMN2
• SPAST
• VEGFA

Link

• PubMed
• OMIM
• Ensembl
• PDB
• JSNP
• ALS Association

• SMN1survival of motor neuron 1, telomeric

• Detail information

  Gene Symbol	SMN1
  Full name	survival of motor neuron 1, telomeric
  Synonym	BCD541, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541
  Genome position	chromosome: 5; Location: 5q13 70220767 .. 70248836 (strand : +)
  Links	EntrezGene UCSC OMIM

  
  The GRCh37/hg19 sequence assembly is used for the human genomic reference sequence.
  

• Sequence information

  Exon : Intron 100:1 50:1 10:1 3:1 1:1   Age onset & duration hide show
  
  expanded image
  
  
  
  
  a.a. : NP_000335.1
  
  mRNA : NM_000344.2

• Mutation Search

  Go to Mutation Search menu

• Mutation & Clinical information

  show new window
  
  Switch : Mutation Data only / Simple mode / Detail mode / Experimental Data only

• Multiple alignments

  Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)
  
  Multiple alignments of orthologous sequences

• 3D structure

  show 1g5v.pdb
• Top

• Structure information

  Structure information is not found.

• Overview of mutations

  show new window   (Registration is needed to see this information, because unpublished data is contained.)